2,342 results match your criteria Pachyonychia Congenita
J Glaucoma 2018 Dec 11. Epub 2018 Dec 11.
Glaucoma and anterior segment, Dr. Shroff's charity eye hospital, Delhi.
Ectodermal dysplasia is a disorder that occurs due to abnormalities of ectodermal structures such as skin, teeth, hair, nails, and eccrine glands. Approximately 200 different conditions have been identified as ectodermal dysplasia, the most common being hypohidrotic ectodermal dysplasia (HED). It is characterized by hypotrichosis (sparse scalp or body hair), hypodontia (absent or malformed teeth) and hypohidrosis (reduced ability to sweat). Read More
Adv Biomed Res 2018 21;7:128. Epub 2018 Sep 21.
Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Primordial dwarfism (PD) is a group of rare genetically heterogeneous disorders consisted of disorders with intrauterine growth retardation continued through the life. SOFT syndrome with characteristics of short stature, onychodysplasia, facial dysmorphism, and hypotrichosis has been presented as a subtype of PD. Only 20 cases of SOFT syndrome have been reported in world to date, but none of them were not in Iran. Read More
Br J Dermatol 2018 Oct 11. Epub 2018 Oct 11.
Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, U.S.A.
Pachyonychia congenita (PC) is a rare autosomal dominant disorder characterized by nail dystrophy and palmoplantar keratoderma with severe plantar pain affecting quality of life. There is no effective treatment. Heterozygous mutations in the keratin genes KRT6A, KRT6B, KRT6C, KRT16 and KRT17 have been reported as a cause of PC. Read More
J Pathol 2018 Oct 10. Epub 2018 Oct 10.
Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an, PR, China.
Keratin 17 (K17) is a type I intermediate filament mainly expressed in the basal cells of epithelia. As a multifaceted cytoskeletal protein, K17 regulates a myriad of biological processes, including cell proliferation and growth, skin inflammation and hair follicle cycling. Aberrant overexpression of K17 is found in various diseases ranging from psoriasis to malignancies such as breast, cervical, oral squamous and gastric carcinomas. Read More
Clin Exp Dermatol 2018 Oct 4. Epub 2018 Oct 4.
Alan Lyell Centre for Dermatology, Queen Elizabeth University Hospital, Glasgow, UK.
Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due to mutations in the keratin 1 gene, KRT1. Epidermolytic ichthyosis (EI), the major keratinopathic ichthyosis, is characterized by congenital erythroderma, blistering and erosions of the skin. Read More
J Peripher Nerv Syst 2018 Dec 16;23(4):241-248. Epub 2018 Oct 16.
Neurology, The Johns Hopkins School of Medicine, Baltimore, Maryland.
Nociceptin/orphanin FQ opioid peptide (NOP)-receptor (NOP-R) is a member of the opioid receptor family. NOP-R activation has demonstrated analgesic effects in preclinical pain models without the addiction risks associated with other opiate targets. Pachyonychia congenita (PC) is a palmoplantar keratoderma characterized by neuropathic pain in affected skin. Read More
J Cardiothorac Surg 2018 Sep 11;13(1):93. Epub 2018 Sep 11.
Department of Cardiothoracic Surgery, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA, 94305, USA.
Background: Yellow nail syndrome is a rare condition considered secondary to functional anomalies of lymphatic drainage. Yellow nail syndrome is diagnosed through the triad of intrathoracic findings (30% being pleural effusions), nail discoloration, and lymphedema, with any two features sufficient for diagnosis. We report the second case of post-operative yellow nail syndrome. Read More
Clin Orthop Surg 2018 Sep 22;10(3):385-388. Epub 2018 Aug 22.
Department of Orthopedic Surgery, Kangdong Sacred Heart Hospital, Hallym University College of Medicine, Seoul, Korea.
Pincer nail deformity is a severe condition in which the nail bed becomes compressed and the nail shows an overcurvature. We retrospectively analyzed 13 pincer nail deformities treated using our nail plate and bed reconstruction technique. Visual analogue scale scores, the width of nail root, width of nail tip, height of nail tip, width index, and height index were assessed before and after surgery. Read More
N Engl J Med 2018 Aug;379(9):e13
Tabriz University of Medical Sciences, Tabriz, Iran
Br J Dermatol 2018 Jul;179(1):11-12
Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, U.K.
Int J Dermatol 2018 09 25;57(9):e73-e75. Epub 2018 Jun 25.
Pachyonychia Congenita Project, Holladay, UT, USA.
J Invest Dermatol 2018 Sep 25. Epub 2018 Sep 25.
Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA. Electronic address:
J Cutan Med Surg 2018 Mar/Apr;22(2):222
1 Weill Cornell Medicine, New York, NY, USA.
Pediatr Dermatol 2018 Jul;35(4):517-518
Department of Dermatology, Hospital Clínico Universitario, Valencia, Spain.
Int J Dermatol 2018 Jun 15. Epub 2018 Jun 15.
Division of Dermatology, McGill University Health Center, Montréal, Quebec, Canada.
Clin Exp Dermatol 2018 Dec 7;43(8):968-971. Epub 2018 Jun 7.
Oxnard Dermatology Medical Group, Oxnard, CA, USA.
Nat Commun 2018 06 6;9(1):2192. Epub 2018 Jun 6.
Department of Medicine and Surgery, University of Milano-Bicocca and San Gerardo hospital, 20900, Monza, Italy.
SETBP1 variants occur as somatic mutations in several hematological malignancies such as atypical chronic myeloid leukemia and as de novo germline mutations in the Schinzel-Giedion syndrome. Here we show that SETBP1 binds to gDNA in AT-rich promoter regions, causing activation of gene expression through recruitment of a HCF1/KMT2A/PHF8 epigenetic complex. Deletion of two AT-hooks abrogates the binding of SETBP1 to gDNA and impairs target gene upregulation. Read More
J Cutan Med Surg 2018 May/Jun;22(3):326
2 Weill Cornell Medicine, Department of Dermatology, New York, NY, USA.
Pediatr Rev 2018 Jun;39(6):311
Riley Hospital for Children, Indianapolis, IN.
Eur J Orthop Surg Traumatol 2018 Dec 24;28(8):1569-1572. Epub 2018 May 24.
Biomedical Research Foundation of the Academy of Athens, Athens, Greece.
Pycnodysostosis or Maroteaux-Lamy syndrome is a genotypic bone disorder, with autosomal recessive inheritance, individualized by Lamy and Maroteaux in 1962. It is characterized by diffuse condensation of the skeleton with thickening of the cortex and narrowing of the medullary cavity. This condensation is reminiscent of the one observed in Albers-Schönberg disease, which differs essentially in dysmorphism of the skull (no closure of fontanelles, gaping sutures, hypoplasia of the lower jaw with open mandibular angle) and extremities (hypoplasia or osteolysis of the phalanges). Read More
BMJ Case Rep 2018 May 8;2018. Epub 2018 May 8.
Department of Clinical and Experimental Medicine, University of Sassari, Sassari, Italy.
Cronkhite-Canada syndrome is a rare disease characterised by diffuse gastrointestinal polyposis, diarrhoea, weight loss, skin hyperpigmentation, onychodystrophy and alopecia. More than 500 cases have been described in the medical literature so far. The disease is probably caused by immune-mediated inflammatory mechanisms, and the diagnosis is based on clinical history, physical examination, endoscopic findings and histology. Read More
J Dtsch Dermatol Ges 2018 Jun 4;16(6):794-797. Epub 2018 May 4.
Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.
J Invest Dermatol 2018 May;138(5):1019-1022
Institute of Molecular and Cellular Anatomy, Rheinisch-Westfälische Technische Hochschule Aachen University, Aachen, Germany.
Pachyonychia congenita is an incurable and often debilitating genodermatosis. Topical application of the antioxidative response inducer sulforaphane, however, alleviates disease symptoms in a murine pachyonychia congenita model, forecasting clinical benefits. The Coulombe laboratory now reports sex-dependent differences in sulforaphane responsiveness of pachyonychia congenita mice, thereby dampening treatment expectations but also unveiling novel aspects of sex-specific oxidative stress reactivity in the epidermis. Read More
J Am Acad Dermatol 2018 05;78(5):1002-1004
Department of Dermatology, Chonnam National University Hospital, Yeongam, Republic of Korea. Electronic address:
J Genet 2018 Mar;97(1):35-46
Department of Developmental Pediatrics, Affiliated Shengjing Hospital of China Medical University, Shenyang 110004, People's Republic of China.
Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant inheritance disorder. Heterozygous de novo mutations in the SETBP1 gene have been identified as the genetic cause of SGS. Here, we report a novel case with the syndrome with a novel insertion mutation in SETBP1. Read More
BMC Gastroenterol 2018 Apr 13;18(1):47. Epub 2018 Apr 13.
Department of Radiology and Nuclear Medicine, Medical University of Lublin, Jaczewski Str, Lublin, 820-954, Poland.
Background: Epidermolysis bullosa (EB) constitutes a heterogenous group of rare multisystem genetically transmitted disorders comprising several blistering muco-cutaneous diseases with a monogenic basis and either autosomal dominant or autosomal recessive mode of inheritance. EB manifestation is not only limited to the skin. Systemic signs might involve the nose, ear, eye, genitourinary tract and upper gastrointestinal tract. Read More
Pediatr Dermatol 2018 Jul 6;35(4):e218-e220. Epub 2018 Apr 6.
Department of Dermatology, School of Medicine, Indiana University, Indianapolis, IN, USA.
Desmoplakin mutations are associated with a wide variety of phenotypes affecting the skin, nails, hair, and heart. A 21-month-old boy was born with multiple erosions resembling epidermolysis bullosa, complete alopecia, nail dystrophy, palmoplantar keratoderma, and areas of follicular hyperkeratosis. He was found to have two heterozygous mutations in the desmoplakin gene: c. Read More
BMJ Case Rep 2018 Mar 28;2018. Epub 2018 Mar 28.
Department of Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Dermatol Online J 2017 Sep 15;23(9). Epub 2017 Sep 15.
Department of Dermatology, SUNY Downstate Medical Center, Brooklyn, New York.
Elastomas are connective tissue nevi or hamartomas. They may occur in isolation or can be associated with familial syndromes such as Buschke-Ollendorff syndrome. Elastomas typically present in childhood as small ivory papules or firm skin-colored nodules that can coalesce into larger yellow plaques. Read More
Intern Med 2018 Jul 9;57(13):1887-1892. Epub 2018 Feb 9.
Department of Pulmonary Medicine and Clinical Immunology, Dokkyo Medical University, Japan.
Yellow nail syndrome (YNS) pleurisy is often difficult to control, and pathological examinations have rarely been reported. We herein report a case of bucillamine-induced YNS in which histopathology of the parietal pleura revealed hyperplasia of the lymphoid follicles and lymphangiectasia. Even after the discontinuation of bucillamine, the pleurisy and lymphedema showed no change. Read More
Exp Dermatol 2018 Jun 19;27(6):672-674. Epub 2018 Apr 19.
Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
The type I intermediate filament keratin 16 (K16) is constitutively expressed in ectoderm-derived appendages and is inducibly expressed in the epidermis upon barrier-compromising challenges. Dominantly acting missense alleles in KRT16 are causative for pachyonychia congenita (PC), a genodermatosis involving debilitating palmoplantar keratoderma (PPK), nail dystrophy, oral lesions and, frequently, alterations in glands and hair. C57Bl/6;Krt16 mice develop oral lesions early after birth and PC-like PPK lesions as young adults. Read More
PLoS Genet 2018 01 22;14(1):e1007168. Epub 2018 Jan 22.
Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, United States of America.
Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar keratoderma. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal epithelium, hair follicle and sweat gland. RNA-seq analysis revealed that all PC-associated keratins (except for Krt6c that does exist in the mouse genome) are expressed in the mouse enamel organ. Read More
BMC Dermatol 2018 01 20;18(1). Epub 2018 Jan 20.
Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPER, Av. D. Manuel I, 9500-370, Ponta Delgada, São Miguel Island, Azores, Portugal.
Background: Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282), which encodes plectin, a structural protein expressed in several tissues, including epithelia and muscle. We describe a patient affected with EBS-MD and diffuse alopecia in which we identified a novel pathogenic mutation by PCR amplification of all coding exons and exon-intron boundaries of PLEC gene, followed by bidirectional Sanger sequencing. Read More
Int J Dermatol 2018 Jul 10;57(7):776-783. Epub 2018 Jan 10.
Department of Dermatology, Weill Cornell Medicine, New York, NY, USA.
Nail changes are a common feature of alopecia areata (AA) and are a significant source of cosmetic disfigurement and functional impairment. This review provides an update of the prevalence, clinical and histopathological features, pathogenesis, differential diagnosis, clinical course, prognosis, and management of nail changes in patients with AA. Searches for peer-reviewed journal articles were conducted using the PubMed/MEDLINE database with the search terms "nail changes alopecia areata," "alopecia areata nails," and specific searches on "trachyonychia alopecia areata" and "pitting alopecia areata. Read More
Br J Dermatol 2018 Sep 5;179(3):755-757. Epub 2018 May 5.
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Scand J Immunol 2018 03 10;87(3). Epub 2018 Jan 10.
Section of Respiratory Medicine, Department of Clinical and Experimental Medicine, AOUC, Florence, Italy.
J Invest Dermatol 2018 May 24;138(5):1094-1100. Epub 2017 Dec 24.
Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan, USA; Department of Biological Chemistry, Johns Hopkins University, Baltimore, Maryland, USA; Department of Dermatology, Johns Hopkins University, Baltimore, Maryland, USA; Department of Oncology, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, Maryland, USA. Electronic address:
Sex is an influential factor regarding pathophysiology and therapeutic response in human disease. Pachyonychia congenita is caused by mutations in keratin genes and typified by dystrophic lesions affecting nails, glands, oral mucosa, and palmar-plantar epidermis. Painful palmar-plantar keratoderma (PPK) severely impairs mobility in pachyonychia congenita. Read More
Indian J Dermatol Venereol Leprol 2018 Jan-Feb;84(1):81-82
Department of Dermatology, Sri Manakula Vinayagar Medical College and Hospital, Puducherry, India.
Dtsch Arztebl Int 2017 Dec;114(50):874
Indian J Dermatol 2017 Nov-Dec;62(6):661-664
Department of Dermatology, Venereology and Leprosy, School of Tropical Medicine, Kolkata, West Bengal, India.
Pachyonychia Congenita (PC) refers to a group of autosomal dominant disorders with variable clinical presentations. While nail dystrophy and plantar keratoderma are the most consistent features in all the variants, a myriad of other manifestations has been observed. This report highlights a case of young female presenting with multiple asymptomatic cutaneous cysts associated with plantar kearatoderma and nail dystrophy. Read More
Br J Dermatol 2018 Jul 25;179(1):154-162. Epub 2018 Apr 25.
Department of Physical Therapy, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, 69978, Israel.
Background: Pachyonychia congenita (PC) is a rare autosomal dominant skin disease, with chronic pain being the most prominent complaint. Histological studies showing alterations in sensory innervation, along with reports on alterations in mechanical sensitivity, suggest that PC may be a form of neuropathy.
Objectives: Here, for the first time, we aim to evaluate systematically the sensory function of patients with PC vs. Read More
BMJ 2017 11 30;359:j5192. Epub 2017 Nov 30.
Department of Dermatology, Affiliated Children's Hospital of Zhengzhou University, Zhengzhou, China
Am J Med Genet A 2018 01 21;176(1):175-180. Epub 2017 Nov 21.
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
The two imprinting syndromes Temple syndrome (TS14) and Prader-Willi syndrome (PWS) share many features in infancy and childhood. TS14 is an important, yet often neglected, differential diagnosis to PWS. We wanted to assess the frequency of TS14 among patients tested for PWS. Read More
Actas Dermosifiliogr 2018 06 20;109(5):387. Epub 2017 Nov 20.
Servicio de Dermatología, Hospital Costa del Sol, Marbella, Málaga, España. Electronic address:
J Am Acad Dermatol 2017 Dec;77(6):e157-e158
Department of Dermatology, Weill Cornell Medicine, Cornell University, New York, New York. Electronic address:
BMJ Case Rep 2017 Nov 8;2017. Epub 2017 Nov 8.
Department of Internal Medicine, All India Institute of Medical Sciences, New Delhi, India.
Maedica (Buchar) 2017 Jun;12(2):123-126
Pachyonychia Congenita Project, Salt Lake City, Utah, USA.
Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identified (as of November 2016) 746 individuals (in 403 families) with genetically confirmed PC. Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC. Read More
Br J Dermatol 2018 May 25;178(5):1011-1019. Epub 2018 Mar 25.
Department of Dermatology, University of California, Irvine, Irvine, CA, U.S.A.
There is growing evidence that botulinum neurotoxins (BoNTs) exhibit biological effects on various human cell types with a host of associated clinical implications. This review aims to provide an update on the non-neuronal and nonmuscular effects of botulinum toxin. We critically analysed recent reports on the structure and function of cellular signalling systems subserving biological effects of BoNTs. Read More
J Am Podiatr Med Assoc 2017 Sep;107(5):428-435
Plantar keratodermas can arise due to a variety of genetically inherited mutations. The need to distinguish between different plantar keratoderma disorders is becoming increasingly apparent because there is evidence that they do not respond identically to treatment. Diagnosis can be aided by observation of other clinical manifestations, such as palmar keratoderma, more widespread hyperkeratosis of the epidermis, hair and nail dystrophies, or erythroderma. Read More